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    Sgsm2 small G protein signaling modulator 2 [ Mus musculus (house mouse) ]

    Gene ID: 97761, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Sgsm2provided by MGI
    Official Full Name
    small G protein signaling modulator 2provided by MGI
    Primary source
    MGI:MGI:2144695
    See related
    Ensembl:ENSMUSG00000038351 AllianceGenome:MGI:2144695
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Rutbc1; mKIAA0397; D630003G22Rik
    Summary
    Enables GTPase activator activity. Predicted to be involved in activation of GTPase activity; intracellular protein transport; and late endosome to Golgi transport. Located in melanosome. Is expressed in brain and embryo. Orthologous to human SGSM2 (small G protein signaling modulator 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 17.1), frontal lobe adult (RPKM 15.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 B5; 11 45.76 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (74740088..74787929, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (74849262..74897211, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene methyltransferase 16, N6-methyladenosine Neighboring gene predicted gene, 57584 Neighboring gene STARR-positive B cell enhancer ABC_E8879 Neighboring gene STARR-positive B cell enhancer ABC_E11484 Neighboring gene STARR-positive B cell enhancer ABC_E7015 Neighboring gene max binding protein Neighboring gene microRNA 6926 Neighboring gene small nucleolar RNA, C/D box 91A Neighboring gene TSR1 20S rRNA accumulation Neighboring gene serine racemase Neighboring gene predicted gene, 22733 Neighboring gene SMG6 nonsense mediated mRNA decay factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. Yang H, et al. Genomics, 2007 Aug. PMID 17509819
    2. RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes. Marubashi S, et al. J Biol Chem, 2016 Jan 15. PMID 26620560, Free PMC Article
    3. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in late endosome to Golgi transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in melanosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in melanosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    small G protein signaling modulator 2
    Names
    RUN and TBC1 domain containing 1
    RUN and TBC1 domain-containing protein 1
    NP_001361617.1
    NP_922934.2
    XP_006534646.1
    XP_006534647.1
    XP_006534648.1
    XP_006534650.1
    XP_006534652.1
    XP_030102307.1
    XP_030102309.1
    XP_030102310.1
    XP_030102311.1
    XP_030102312.1
    XP_030102314.1
    XP_036013005.1
    XP_036013006.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001374688.1 → NP_001361617.1  small G protein signaling modulator 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL604066
      Consensus CDS
      CCDS88189.1
      Related
      ENSMUSP00000080489.6, ENSMUST00000081799.6
      Conserved Domains (3) summary
      smart00164
      Location:838 → 1006
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:256 → 424
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:42 → 185
      RUN; RUN domain

    2. NM_197943.3 → NP_922934.2  small G protein signaling modulator 2 isoform 1

      See identical proteins and their annotated locations for NP_922934.2

      Status: VALIDATED

      Source sequence(s)
      AL604066
      Consensus CDS
      CCDS36224.1
      UniProtKB/Swiss-Prot
      Q5SWE0, Q5SWE1, Q6PAP8, Q80U12
      Related
      ENSMUSP00000050496.6, ENSMUST00000057631.12
      Conserved Domains (3) summary
      smart00164
      Location:793 → 961
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:256 → 424
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:42 → 185
      RUN; RUN domain

    RNA

    1. NR_166445.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL604066

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      74740088..74787929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534585.4 → XP_006534648.1  small G protein signaling modulator 2 isoform X3

      Conserved Domains (2) summary
      smart00164
      Location:637 → 805
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:55 → 223
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    2. XM_030246449.1 → XP_030102309.1  small G protein signaling modulator 2 isoform X5

      Conserved Domains (2) summary
      smart00164
      Location:553 → 721
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:21 → 184
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    3. XM_030246447.1 → XP_030102307.1  small G protein signaling modulator 2 isoform X4

      Conserved Domains (2) summary
      smart00164
      Location:598 → 766
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:21 → 184
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    4. XM_030246451.2 → XP_030102311.1  small G protein signaling modulator 2 isoform X6

      Conserved Domains (2) summary
      smart00164
      Location:537 → 705
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:2 → 123
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    5. XM_030246452.2 → XP_030102312.1  small G protein signaling modulator 2 isoform X7

      Conserved Domains (2) summary
      smart00164
      Location:521 → 689
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:1 → 152
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    6. XM_006534583.5 → XP_006534646.1  small G protein signaling modulator 2 isoform X1

      Conserved Domains (3) summary
      smart00164
      Location:745 → 913
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:163 → 331
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      cl02689
      Location:42 → 99
      RUN; RUN domain

    7. XM_006534584.5 → XP_006534647.1  small G protein signaling modulator 2 isoform X2

      Conserved Domains (3) summary
      smart00164
      Location:725 → 893
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:163 → 311
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      cl02689
      Location:42 → 152
      RUN; RUN domain

    8. XM_036157112.1 → XP_036013005.1  small G protein signaling modulator 2 isoform X8

      Conserved Domains (2) summary
      smart00164
      Location:469 → 637
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl17171
      Location:14 → 55
      PH-like; Pleckstrin homology-like domain

    9. XM_030246450.1 → XP_030102310.1  small G protein signaling modulator 2 isoform X5

      Conserved Domains (2) summary
      smart00164
      Location:553 → 721
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:21 → 184
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    10. XM_006534587.2 → XP_006534650.1  small G protein signaling modulator 2 isoform X4

      Conserved Domains (2) summary
      smart00164
      Location:598 → 766
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:21 → 184
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    11. XM_030246454.1 → XP_030102314.1  small G protein signaling modulator 2 isoform X9

      Conserved Domains (2) summary
      smart00164
      Location:424 → 592
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl17171
      Location:14 → 55
      PH-like; Pleckstrin homology-like domain

    12. XM_036157113.1 → XP_036013006.1  small G protein signaling modulator 2 isoform X8

      Conserved Domains (2) summary
      smart00164
      Location:469 → 637
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl17171
      Location:14 → 55
      PH-like; Pleckstrin homology-like domain

    13. XM_006534589.3 → XP_006534652.1  small G protein signaling modulator 2 isoform X8

      See identical proteins and their annotated locations for XP_006534652.1

      Conserved Domains (2) summary
      smart00164
      Location:469 → 637
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl17171
      Location:14 → 55
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_001780085.3 RNA Sequence

    2. XR_001780083.3 RNA Sequence

    3. XR_388560.5 RNA Sequence

    4. XR_001780084.3 RNA Sequence

    5. XR_001780082.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80U12.2 GenPept UniProtKB/Swiss-Prot:Q80U12

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